A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv26e203



Internal ID20126251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31080036..31264457hg38UCSC Ensembl
chr12:31232970..31417391hg19UCSC Ensembl
chr12:31124237..31308658hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38184422
hg19184422
hg18184422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760888, esv2760232
SamplesSW_0831, RW_0126, RW_0129, SW_0086, RW_0539, SW_0311, RW_0168, SW_1131, SW_1463, RW_0103, SW_1430, SW_1465, RW_0134, SW_0636, SW_0144, SW_1314, SW_1209, SW_1020, SW_0214, SW_0889, SW_1309, RW_0551, SW_0875, SW_1089, SW_1415, SW_1324, SW_1333, SW_0690, RW_0593, SW_0047, SW_1356, RW_0632, SW_0155, RW_0255, SW_1270, SW_1012, SW_0201, RW_0550, SW_0678, SW_1429, SW_1343, RW_0017, SW_1325, RW_0321, SW_1345, RW_0205, RW_0006, RW_0075, RW_0139, SW_1203, RW_0328, SW_1125, SW_1043
Known GenesDDX11
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)dgv26e203
Frequency
Sample Size1109
Observed Gain53
Observed Loss0
Observed Complex0
Frequencyn/a


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